Primary Hyperoxaluria (PH)
Oxalosis I, Primary Hyperoxaluria I, PH1
Primary Hyperoxaluria (PH) is a metabolic disorder that affects the Coton de Tulear dog breed. The disease results from a liver enzyme deficiency required to break down calcium oxalate crystals so they can be eliminated from a dog’s system. Without a properly functioning enzyme, crystals build up in the dog’s body leading to progressive illness. Affected puppies show signs of the disorder at 3-4 weeks of age with the disease eventually leading to kidney failure. Symptoms of acute renal failure can include loss of appetite, vomiting, lethargy, decreased urine production, abdominal pain, and blood in the urine. PH-affected puppies rarely survive beyond a few months.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Primary Hyperoxaluria nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Primary Hyperoxaluria but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Primary Hyperoxaluria which results in eventual kidney failure and poor survival beyond a few weeks of age.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
AGXT
Chromosome
Ch. 25
Mutation
Chr25:50968854 (CanFam3): G>A
Publication:
Vidgren G, Vainio-Siukola K, Honkasalo S, Dillard K, Anttila M, Vauhkonen H. Primary hyperoxaluria in Coton de Tulear. Anim Genet. 2012 Jun; 43(3):356-61. [PubMed: 22486513]
